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The co-occurrence of autism and birth defects: prevalence and risk in a population-based cohort

Diana E Schendel1, Andrew Autry, Roberta Wines

  • 1Division of Birth Defects and Developmental Disabilities, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA. dschendel@cdc.gov

Developmental Medicine and Child Neurology
|May 7, 2009
PubMed

Insights

Major birth defects occur in 6% of children with autism, increasing overall autism risk twofold. The association between birth defects and autism risk, particularly with intellectual disability, warrants further investigation.

Area of Science:

  • Developmental Pediatrics
  • Public Health
  • Genetics

Background:

  • Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition.
  • Birth defects are common congenital abnormalities.
  • The relationship between birth defects and ASD requires further elucidation.

Purpose of the Study:

  • To determine the prevalence of major birth defects in children diagnosed with autism.
  • To assess the prevalence of autism in children with birth defects.
  • To evaluate the risk of autism associated with the presence of birth defects.

Main Methods:

  • Retrospective cohort study utilizing Georgia vital records and developmental disability surveillance data.
  • Inclusion criteria: children born in Atlanta (1986-1993) surviving to age 3.
  • Identification of autism, developmental disabilities, and major birth defects through established surveillance programs.

Main Results:

  • Major birth defects were identified in 6% of children with autism (n=617).
  • Presence of any birth defect was associated with a nearly twofold increased risk for autism.
  • Risk varied by birth defect type; higher risk for autism with intellectual/developmental disabilities when co-occurring with birth defects. A significant male bias (6:1 to 8:1) was noted in this subgroup.

Conclusions:

  • The association between birth defects and autism is significant and warrants continued investigation.
  • Further research is needed to understand the specific role of birth defects in various autism subgroups, including sex-specific analyses.
Abstract

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